Lazanakis M S, Rodgers K, Economides D L
University Department of Obstetrics and Gynaecology, Royal Free Hospital, London, U.K.
Prenat Diagn. 1998 May;18(5):507-10.
Recent developments in cytogenetics has shown that 22q11 microdeletion is related to a broad spectrum of malformations which are described under the acronym CATCH 22 (Cardiac, Abnormal faces, Thymic hypoplasia, Cleft palate, Hypocalcaemia and 22 chromosome deletion). We describe a case of a fetus with increased nuchal translucency at 12 weeks' gestation presenting with congenital cardiac defects of DiGeorge syndrome type and hypocalcaemia at birth. The neonate was also diagnosed as carrying the 22q11 microdeletion. When nuchal translucency measurement is increased, CATCH 22 spectrum of malformations should be considered and therefore a thorough karyotype analysis should be performed to exclude microdeletion of chromosome 22.
细胞遗传学的最新进展表明，22q11微缺失与一系列广泛的畸形有关，这些畸形用首字母缩写词CATCH 22来描述（心脏、面部异常、胸腺发育不全、腭裂、低钙血症和22号染色体缺失）。我们描述了一例妊娠12周时颈部透明带增厚的胎儿病例，该胎儿出生时患有狄乔治综合征类型的先天性心脏缺陷和低钙血症。该新生儿也被诊断为携带22q11微缺失。当颈部透明带测量值增加时，应考虑CATCH 22系列畸形，因此应进行全面的核型分析以排除22号染色体微缺失。
